DXS1O6 AND DXS559 FLANK THE X-LINKED DYSTONIA-PARKINSONISM SYNDROME LOCUS (DYT3)

被引：26

作者：

MULLER, U ^{[1
]}

HABERHAUSEN, G ^{[1
]}

WAGNER, T ^{[1
]}

FAIRWEATHER, ND ^{[1
]}

CHELLY, J ^{[1
]}

MONACO, AP ^{[1
]}

机构：

[1] JOHN RADCLIFFE HOSP,INST MOLEC MED,IMPERIAL CANC RES FUND LABS,OXFORD OX3 9DU,ENGLAND

来源：

GENOMICS | 1994年 / 23卷 / 01期

关键词：

D O I：

10.1006/geno.1994.1465

中图分类号：

Q81 [生物工程学（生物技术）]; Q93 [微生物学];

学科分类号：

071005 ; 0836 ; 090102 ; 100705 ;

摘要：

The locus (DYT3) underlying the X-linked dystonia-parkinsonism syndrome (XDP) was delineated within proximal Xq12-Xq13.1 by analysis of linkage, allelic association, and haplotypes. Short tandem repeat polymorphisms at loci DXS227, DXS559, DXS453, DXS1O6, DXS339, and DXS135 were studied. The occurrence of a recombination within a three-generation family established DXS559 as the distal flanking marker of DYT3. /phi/ and /Delta/ values were determined as indicators of the degree of allelic association between DYT3 and the six marker loci. In addition, haplotype analysis was performed at the loci studied. The findings establish DXS1O6 as the proximal flanking marker of DYT3. Given an approximate distance between DXS1O6 and DXS559 of 3.0 Mb, isolation of DYT3 is now feasible by positional cloning techniques. (C) 1994 Academic Press, Inc.

引用

页码：114 / 117

页数：4

共 21 条

[1] CONNEXIN MUTATIONS IN X-LINKED CHARCOT-MARIE-TOOTH DISEASE [J].

BERGOFFEN, J ;

SCHERER, SS ;

WANG, S ;

SCOTT, MO ;

BONE, LJ ;

PAUL, DL ;

CHEN, K ;

LENSCH, MW ;

CHANCE, PF ;

FISCHBECK, KH .

SCIENCE, 1993, 262 (5142) :2039-2042

[2]

CHAKRAVARTI A, 1984, AM J HUM GENET, V36, P1239

[3] MUTATIONS IN THE CONNEXIN-32 GENE IN X-LINKED DOMINANT CHARCOT-MARIE-TOOTH DISEASE (CMTX1) [J].

FAIRWEATHER, N ;

BELL, C ;

COCHRANE, S ;

CHELLY, J ;

WANG, S ;

MOSTACCIUOLO, ML ;

MONACO, AP ;

HAITES, NE .

HUMAN MOLECULAR GENETICS, 1994, 3 (01) :29-34

[4] DINUCLEOTIDE REPEAT POLYMORPHISMS FROM DXS106 AND DXS227 YACS USING A 2-STAGE APPROACH [J].

FAIRWEATHER, N ;

CHELLY, J ;

MONACO, AP .

HUMAN MOLECULAR GENETICS, 1993, 2 (05) :607-608

[5] DELINEATION OF THE DYSTONIA PARKINSONISM SYNDROME LOCUS IN XQ13 [J].

GRAEBER, MB ;

KUPKE, KG ;

MULLER, U .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1992, 89 (17) :8245-8248

[6] LINKAGE DISEQUILIBRIUM MAPPING IN ISOLATED FOUNDER POPULATIONS - DIASTROPHIC DYSPLASIA IN FINLAND [J].

HASTBACKA, J ;

DELACHAPELLE, A ;

KAITILA, I ;

SISTONEN, P ;

WEAVER, A ;

LANDER, E .

NATURE GENETICS, 1992, 2 (03) :204-211

[7]

KUPKE KG, 1992, AM J HUM GENET, V50, P808

[8] ASSIGNMENT OF THE X-LINKED TORSION DYSTONIA GENE TO XQ21 BY LINKAGE ANALYSIS [J].

KUPKE, KG ;

LEE, LV ;

MULLER, U .

NEUROLOGY, 1990, 40 (09) :1438-1442

[9] 2.6 MB YAC CONTIG OF THE HUMAN-X INACTIVATION CENTER REGION IN XQ13 - PHYSICAL LINKAGE OF THE RPS4X, PHKA1, XIST AND DXS128E GENES [J].

LAFRENIERE, RG ;

BROWN, CJ ;

RIDER, S ;

CHELLY, J ;

TAILLONMILLER, P ;

CHINAULT, AC ;

MONACO, AP ;

WILLARD, HF .

HUMAN MOLECULAR GENETICS, 1993, 2 (08) :1105-1115

[10] PHYSICAL MAPPING OF 60DNA MARKERS IN THE P21.1-]Q21.3 REGION OF THE HUMAN X-CHROMOSOME [J].

LAFRENIERE, RG ;

BROWN, CJ ;

POWERS, VE ;

CARREL, L ;

DAVIES, KE ;

BARKER, DF ;

WILLARD, HF .

GENOMICS, 1991, 11 (02) :352-363

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